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FLASH GENE

Symbol

RNASEH2A

contributors: mct - updated : 17-01-2012

HGNC name	ribonuclease H2, large subunit
HGNC id	18518

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AGS4 Aicardi-Goutieres syndrome 4
Location	19p13.2      Physical location : 12.917.427 - 12.924.462
Synonym symbol(s)	RNHL, RNHIA, RNASEHI, JUNB
EC.number	3.1.26.4

DNA

TYPE	functioning gene
STRUCTURE	7.03 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006397 8 - 1148 - 299 - 1998 9789007

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune tonsils       highly Reproductive female system uterus cervix   highly Skin/Tegument skin       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

C terminus is a eukaryotic adaptation for binding the two accessory subunits, with residues within it required for enzymatic activity and this C-terminal extension interacts with the RNASEH2C C terminus and both are necessary to form a stable, enzymatically active heterotrimer

HOMOLOGY

Homologene

FAMILY

RNASE HII family, eukaryotic subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic,ribosome
	intracellular,nucleus

basic FUNCTION	endonuclease that specifically degrades the RNA of RNA- DNA hybrids
	participating in DNA replication
	may function to degrade RNA/DNA hybrids during cell death to avoid nucleic acid-mediated immune activation
	ribonuclease H enzymes that specifically recognize RNA/DNA hybrids and hydrolyze the ribonucleotide-containing polynucleotide strand
	SAMHD1, TREX1, and RNase H2 participate in a cellular nucleic acid metabolic pathway that overlaps the interferon-mediated innate antiviral and inflammatory responses
	RNASEH1, RNASEH2A are necessary for the removal of RNA that is found in DNA
	RNase H2 removes singly incorporated ribonucleoside 5’-monophosphate (rNMP) residues in DNA

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

RNase H2 is a heterotrimeric complex of the RNase H2A, RNase H2B, and RNase H2C proteins that are all required for proper function and activity

INTERACTION

DNA

RNA

small molecule	metal binding,
	manganese or magnesium

protein	interfaces mostly with the RNase H2C subunit that is intricately interwoven with the RNase H2B subunit
	C1QBP binds specifically to human RNASEH1, but not human RNASEH2A

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AGS4

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS